ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.412-6_412-4del (rs397516462)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036582 SCV000060237 likely benign not specified 2010-11-09 criteria provided, single submitter clinical testing The 382-6_382-4delCCT variant has not been reported in the literature but has be en detected by our laboratory in two Asian probands, one with HCM and one with D CM. The HCM case already had another variant thought to be causative for disease . In silico tools do not predict an impact to the splicing consensus sequence. I n summary, this data suggests this variant is likely benign.
Invitae RCV000560677 SCV000646897 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Color RCV000771864 SCV000904585 benign Cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing

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